Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree. Submitted by iguillen on Mon, 06/17/2019 - 12:40 Méndez-Vidal C, Bravo-Gil N, del Pozo MGonzález-, et al. Novel RP1 mutations and a recurrent BBS1 variant explain the co-existence of two distinct retinal phenotypes in the same pedigree. BMC Genet. 2014;15:143. doi:10.1186/s12863-014-0143-2.
